Utilizing Augmented Artificial Intelligence for Aminoacidopathies

Utilizing Augmented Artificial Intelligence for Aminoacidopathies: Experience of Collaborative Laboratory Integrated Reporting From Pakistan

The objective of the study was to interpret metabolic profiles of plasma amino acid (PAA) and compare reference intervals (RI) of PAA data from Pakistan with data from other countries using Clinical Laboratory Integrated Reports (CLIR). One-year data (reference and cases data) of twenty-two PAA, analyzed by ion exchange high performance chromatography at Biochemical Genetics Laboratory (BGL) of Aga Khan University Pakistan, was compiled in a comma-separated values (.csv) file and uploaded on CLIR Software using AAQP (Amino Acid in Plasma) application for statistical analysis. Among total of 2081 PAA profiles, 92% (n=1913) were completely normal with all PAA values falling within the age-specific reference range. A concordance of 98.8% was noted between the reporting done by the BGL at AKU and then after applying CLIR tools.

Study Overview

• Status: Completed
• Conditions: Inborn Errors of Metabolism
• Intervention / Treatment: Diagnostic test: Plasma amino acid assay

• Study Type: Observational
• Enrollment (Actual): 2081

Contacts and Locations

Study Locations

• Pakistan
  • Sindh
    • Karachi, Sindh, Pakistan, 74800
      • Aga Khan University Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 16 years (CHILD)
• Accepts Healthy Volunteers: N/A
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Data of all those who had Plasma amino acid analyzed at the Biogenetic laboratory of Aga Khan University, symptomatic as well as asymptomatic children with suspicion of Inherited Metabolic Disorders (IMDs), from August 2019-August 2020 were included. Plasma amino acids analysis was performed using cation-exchange high-performance liquid chromatography (HPLC) on Biochrom 30+ model using lithium column diameter 4.6 mm and detected at 440/570 nm.

Description

Inclusion Criteria:

All plasma samples during 1 year received at Biogenetic Lab

Exclusion Criteria:

Subjects with age greater than 16 years

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Cases Data; subjects having abnormal plasma amino acid profiles with either one or more amino acid concentrations beyond (high or low) the locally defined age-specific reference ranges	Diagnostic test: Plasma amino acid assay; Plasma amino acid analysis was performed on all the blood samples received in biogenetics lab at Aga khan university, Karachi during one year period.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
postanalytical interpretation of concentration of plasma leucin, isoleucine and valine in nmol/L using Clinical Laboratory Integrated Reports (CLIR)	Clinical Laboratory Integrated Reports (CLIR, formerly Region 4 Stork) is a post-analytical software that compares the amino acid results against a large database of reference ranges, disease-specific cutoffs, and ratios of diagnostic markers. Among 168 subjects having abnormal PAA profiles in our lab, 10.1% were correctly classified as MSUD and 100% concordance with CLIR reporting.	1 year

Collaborators and Investigators

• Sponsor: Aga Khan University Hospital, Pakistan
• Investigators: Principal Investigator: Dr lena Jafri, Aga khan hospital karachi, Pakistan

Study record dates

Study Major Dates

• Study Start (ACTUAL): August 1, 2019
• Primary Completion (ACTUAL): August 30, 2020
• Study Completion (ACTUAL): August 30, 2020

Study Registration Dates

• First Submitted: June 25, 2022
• First Submitted That Met QC Criteria: June 25, 2022
• First Posted (ACTUAL): June 29, 2022

Study Record Updates

• Last Update Posted (ACTUAL): July 5, 2022
• Last Update Submitted That Met QC Criteria: June 29, 2022
• Last Verified: June 1, 2022

More Information

Terms related to this study

• Keywords: Clinical Laboratory Integrated Reports (CLIR); Inherited metabolic disorders (IMDs)
• Additional Relevant MeSH Terms: Metabolic Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors
• Other Study ID Numbers: ERC # 2019-1709-4536

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No